ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9165G>A (p.Thr3055=)

gnomAD frequency: 0.00024  dbSNP: rs137905486
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725916 SCV000340503 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000329066 SCV000725564 likely benign not specified 2017-12-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000622128 SCV000736132 likely benign Cardiovascular phenotype 2017-11-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001080762 SCV000751576 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000329066 SCV001159901 benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000329066 SCV001879915 benign not specified 2021-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543092 SCV004782964 likely benign DMD-related disorder 2020-08-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001835758 SCV002080190 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-25 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.